Ear-patella-short stature syndrome

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Synonyms: Meier-Gorlin syndrome

A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae) absent patellae short stature and characteristic facial features such as high forehead micrognathism with full lips and small mouth and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Ear-patella-short stature syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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